G08: Sciences Genetic Disorders: PALB2

Learn about the cancer risks, screening, prevention and treatment options for people with inherited PALB2 mutations.

Germline loss-of-function mutations in PALB2 are known to confer a predisposition to breast cancer. However, the lifetime risk of breast cancer that is conferred by such mutations remains unknown.

Familial breast cancer predisposition due to a monoallelic germline loss-of-function pathogenic variant in the PALB2 gene is an autosomal dominant condition.

Biallelic pathogenic variants in the PALB2 gene cause autosomal recessive Fanconi anaemia (complementation group N).

The care of an individual who has developed a related tumour or cancer should be individualised based on their clinical situation, their family history and the monitoring they need as part of their treatment and post-treatment follow-up.

The risk management of an individual with a pathogenic variant in two or more genes that confer a predisposition to cancer should also be individualised.

A new vaccine was first tested on people diagnosed with triple-negative breast cancer. The vaccine is now being tested to prevent breast cancer among people with an inherited mutation in BRCA1 or PALB2 who are at high risk and who are planning to have a risk-reducing mastectomy.